消化道低度恶性纤维黏液样肉瘤6例临床病理分析  

Low-grade fibromyxoid sarcoma of the gastrointestinal tract:a clinicopathological study of 6 cases with review of the literature

作　　者：杨颖谕 葛爱敏[3] 柏乾明 周晓燕 王坚 YANG Yingyu;GE Aimin;BAI Qianming;ZHOU Xiaoyan;WANG Jian(Department of Pathology,Fudan University,Shanghai Cancer Center/Department of Oncology,Shanghai Medical College,Fudan University,Shanghai 200032,China;Department of Pathology,Qujing NO.1 People’s Hospital,Yunnan Province,Qujing 655000,China;Department of Pathology,Heze Municipal Hospital,Shandong Province,Heze 274000,China)

机构地区：[1]复旦大学附属肿瘤医院病理科/复旦大学上海医学院肿瘤学系,上海200032 [2]云南省曲靖市第一人民医院病理科,曲靖655000 [3]山东省菏泽市立医院病理科,菏泽274000

出　　处：《临床与实验病理学杂志》2023年第10期1192-1197,共6页Chinese Journal of Clinical and Experimental Pathology

摘　　要：目的探讨消化道低度恶性纤维黏液样肉瘤(low-grade fibromyxoid sarcoma,LGFMS)的临床病理学特征和分子学改变。方法回顾性分析6例消化道LGFMS的临床病理学特征、免疫表型和分子改变。采用免疫组化EnVision两步法检测蛋白表达,FISH法检测FUS基因重排情况,RNA-seq法检测FUS融合基因,并复习相关文献。结果6例消化道LGFMS中男性4例,女性2例,患者年龄25~49岁,平均年龄和中位年龄分别为38.3岁和40岁。发生于结肠2例,胃、直肠、小肠和肠系膜各1例。5例为手术标本,肿瘤最大径2~15 cm(平均7.9 cm),1例为穿刺活检标本。低倍镜下见肿瘤多位于消化道壁内,由交替性分布的胶原性区域和黏液样区域组成,两区之间有移行。高倍镜下见瘤细胞形态一致,呈短梭形或卵圆形,核深染,染色质均匀细腻,胞质呈淡嗜伊红色。核分裂象罕见,无坏死。瘤细胞呈长束状、交织状、漩涡状或杂乱状排列。1例肿瘤内见巨菊形团结构,其中央为放射状排列的胶原纤维,周围环绕多层瘤细胞。1例含有硬化性上皮样纤维肉瘤样区域。免疫表型:6例瘤细胞均弥漫表达MUC4,1例弱表达EMA,2例灶性表达DOG1。Ki-67增殖指数为2%~5%。FISH检测4例均显示FUS基因断裂重排,1例RNA-seq检测显示FUS-CREB3L2融合基因。6例均获得随访信息,随访时间8~96个月,5例术后无复发,1例行保守治疗,病情无进展。结论原发于消化道的LGFMS极为罕见,易误诊为消化道其他梭形细胞肿瘤。熟悉其临床病理学特点,辅以免疫组化和分子检测有助于诊断和鉴别诊断。消化道LGFMS多呈惰性经过,应长期随访。Purpose To investigate the clinicopathological features,immunophenotypes and molecular genetics of gastrointestinal(GI)low-grade fibromyxoid sarcoma(LGFMS)with an emphasis on differential diagnosis.Methods The clinicopathological data,immunohistochemical results and molecular profiles of 6 cases of GI LGFMS were retrospectively analyzed.EnVision two step immunohistochemical staining was carried out to test the expression of protein.FISH was used to detect break rearrangement of FUS gene.RNA-seq was tested to identify the fusion gene of FUS.The literatures were reviewed.Results Of the 6 cases,there were 4 males and 2 females with age at presentation ranging from 25 to 49 years(mean 38.3 years,median 40 years).Two tumors occurred in the colon,one each in the stomach,rectum,small intestine and mesentery.Tumor ranged from 2 to 15 cm in greatest diameter(mean,7.9 cm).At lower power,the tumor was located principally within the gastrointestinal wall,composed of alternative collagenous and myxoid zones,with abrupt or gradual transition from one to the other.On higher magnification,they were composed of deceptively bland short spindled to ovoid cells,having pale eosinophilic cytoplasm and hyperchromatic nuclei with fine chromatin.Mitotic figures were rare and necrosis was absent.Tumor cells were arranged in sweeping or intersecting fascicles,irregular whorls or haphazardly in a fibrous to myxoid background.Large collagen rosettes were present in 1 case,consisting of cores of hyalinized collagen surrounded by layers of ovoid tumor cells.One case contained cellular areas resembling sclerosing epithelioid fibrosarcoma.By immunohistochemistry,all tumors showed diffuse staining of MUC4,with weak expression of epithelial membrane antigen in 1 case,and focal staining of DOG1 in 2 cases.Fluorescence in situ hybridization analysis revealed FUS rearrangement in all four cases tested.RNA-seq tested in 1 case identified FUS-CREB3L2 fusion.At last follow-up(8-96 months),5 patients were alive without disease.One patient showed no progr

关 键 词：消化道肿瘤 低度恶性纤维黏液样肉瘤 MUC4 FUS基因 免疫组织化学 

分 类 号：R735[医药卫生—肿瘤]